Canonical Allele Identifier: CA400784059

Gene: NACA2

Linked Data

• dbSNP Id: rs1603265776
• gnomAD v3: 17-61590768-G-A
• gnomAD v4: 17-61590768-G-A
• MyVariant Identifiers: chr17:g.59668129G>A (hg19) ; chr17:g.61590768G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.61590768G>A , CM000679.2:g.61590768G>A	GRCh38
NC_000017.10:g.59668129G>A , CM000679.1:g.59668129G>A	GRCh37
NC_000017.9:g.57022911G>A	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000521764.3:c.413C>T MANE Select	ENSP00000427802.1:p.Ala138Val
ENST00000521764.2:c.413C>T	ENSP00000427802.1:p.Ala138Val
NM_199290.3:c.413C>T	NP_954984.1:p.Ala138Val
NM_199290.4:c.413C>T MANE Select	NP_954984.1:p.Ala138Val